A Rare Case Report of Crigler Najjar Syndrome Type II

Crigler-Najjar syndrome is an inborn error of metabolism caused by a point mutation in one of the five exons of UGT1A1 gene, the product of which is responsible for elimination of bilirubin via bile. A number of hyperbilirubinemia disorders similar to Crigler-Najjar syndrome are reported, but they d...

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Autores principales: Abdul Raffay, Eusha, Liaqat, Ayesha, Khan, Maria, Awan, Ali I, Mand, Bakhat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7880822/
https://www.ncbi.nlm.nih.gov/pubmed/33604208
http://dx.doi.org/10.7759/cureus.12669
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author Abdul Raffay, Eusha
Liaqat, Ayesha
Khan, Maria
Awan, Ali I
Mand, Bakhat
author_facet Abdul Raffay, Eusha
Liaqat, Ayesha
Khan, Maria
Awan, Ali I
Mand, Bakhat
author_sort Abdul Raffay, Eusha
collection PubMed
description Crigler-Najjar syndrome is an inborn error of metabolism caused by a point mutation in one of the five exons of UGT1A1 gene, the product of which is responsible for elimination of bilirubin via bile. A number of hyperbilirubinemia disorders similar to Crigler-Najjar syndrome are reported, but they differ in their level of unconjugated bilirubin and responses to the treatment. Here we report a 14-year-old male patient admitted to hospital with the complaint of vomiting and frequent tonsillitis. Further examination revealed that he was jaundiced since birth and had a family history of similar disorder. This report is about an extremely rare case of Crigler-Najjar syndrome type II and also management of the condition to provide the patient with a healthy lifestyle.
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spelling pubmed-78808222021-02-17 A Rare Case Report of Crigler Najjar Syndrome Type II Abdul Raffay, Eusha Liaqat, Ayesha Khan, Maria Awan, Ali I Mand, Bakhat Cureus Genetics Crigler-Najjar syndrome is an inborn error of metabolism caused by a point mutation in one of the five exons of UGT1A1 gene, the product of which is responsible for elimination of bilirubin via bile. A number of hyperbilirubinemia disorders similar to Crigler-Najjar syndrome are reported, but they differ in their level of unconjugated bilirubin and responses to the treatment. Here we report a 14-year-old male patient admitted to hospital with the complaint of vomiting and frequent tonsillitis. Further examination revealed that he was jaundiced since birth and had a family history of similar disorder. This report is about an extremely rare case of Crigler-Najjar syndrome type II and also management of the condition to provide the patient with a healthy lifestyle. Cureus 2021-01-12 /pmc/articles/PMC7880822/ /pubmed/33604208 http://dx.doi.org/10.7759/cureus.12669 Text en Copyright © 2021, Abdul Raffay et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Abdul Raffay, Eusha
Liaqat, Ayesha
Khan, Maria
Awan, Ali I
Mand, Bakhat
A Rare Case Report of Crigler Najjar Syndrome Type II
title A Rare Case Report of Crigler Najjar Syndrome Type II
title_full A Rare Case Report of Crigler Najjar Syndrome Type II
title_fullStr A Rare Case Report of Crigler Najjar Syndrome Type II
title_full_unstemmed A Rare Case Report of Crigler Najjar Syndrome Type II
title_short A Rare Case Report of Crigler Najjar Syndrome Type II
title_sort rare case report of crigler najjar syndrome type ii
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7880822/
https://www.ncbi.nlm.nih.gov/pubmed/33604208
http://dx.doi.org/10.7759/cureus.12669
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